TNXA
Description
The TNXA (tenascin XA (pseudogene)) is a pseudo gene located on chromosome 6.
TNXA gene provides instructions for making a protein that's part of the nuclear pore complex (NPC). The NPC is a large structure that acts as a gatekeeper, controlling what goes in and out of the cell's nucleus. TNXA protein might be involved in building and/or taking apart the NPC. Changes in the TNXA gene have been linked to a rare disease called autosomal recessive cerebellar ataxia with neuropathy, which affects the nervous system.
The protein encoded by this gene is a component of the nuclear pore complex (NPC), which is a large protein complex that regulates the movement of molecules between the nucleus and the cytoplasm. This protein may play a role in the assembly and/or disassembly of the NPC. Mutations in this gene have been associated with autosomal recessive cerebellar ataxia with neuropathy, a rare neurodegenerative disorder.
TNXA is also known as D6S103E, HXBL, TNX, XA.
